Skip to Main Content

Paper Details

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Am J Hum Genet
3
2021
CRL4, CUL4, DDB1, DDB1 variants, DNA, DNA damage-binding protein 1, DNA repair disorder, Digital anomalies, PHIP, brachydactyly, chromatin, histone, hypotonia, intellectual disability, neurodevelopmental syndrome, obesity, short nose, syndactyly, syndromic intellectual disability, ubiquitin E3, ubiquitin ligase
Author NameAffiliation
Christoffer Nell??kerUniversity of Oxford, UK Institute of Biomedical Engineering, UK Big Data Institute
Aren E MarshallChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Dong LiChildren's Hospital of Philadelphia
Taila HartleyChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
John ChristodoulouUniversity of Melbourne, Australia Murdoch Children's Research Institute
  • 1 - 6

Datasets

Release 1.2